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Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor

✍ Scribed by Roth, A. ;Nogues, C. ;Monnet, J. P. ;Ogier, H. ;Saudubray, J. M.

Publisher
Springer-Verlag
Year
1985
Tongue
English
Weight
595 KB
Volume
405
Category
Article
ISSN
0174-7398

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πŸ“œ SIMILAR VOLUMES

Report on a new patient with combined de
Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency
✍ W. Endres; Y. S. Shin; R. GΓΌnther; H. Ibel; M. Duran; S. K. Wadman πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 796 KB

A newborn infant exhibiting seizures and spastic tetraparesis at the age of 1 week was shown to excrete excessive quantities of sulphite, taurine, S-sulphocysteine and thiosulphate, characteristic of sulphite oxidase deficiency. In addition, increased renal excretion of xanthine and hypoxanthine com